The pathway of gene expression RNA Alternative polyadenylation

The pathway of gene expression RNA- תהליך עיבוד ה

Alternative polyadenylation

Capping, poly A, splicing m. RNA processing sum •

The pathway of gene expression שיחבור

Pre-m. RNA splicing involves 5 small nuclear RNAs (sn. RNAs) U 5 U 1 חוט השידרה של ראקציית הספליסינג הינה הדרך בה חמשת המולקולות של הרנא עוברות אינטראקציה אחת עם השניה ועם הרצפים השמורים על מנת לאפשר את ראקציית . הספליסינג U 2 U 6 U 4 orange-interaction with the 5’ splice site green-interaction with the branch site blue-interaction between U 2 and U 6 tan-Sm-binding site (Pu. AU 4 -6 GPu) flanked by two stem-loop structures

Systemic Lupus Erythematosus (SLE) Lupus is a type of immune system disorder known as an autoimmune disease. In autoimmune diseases, the body harms its own healthy cells and tissues. This leads to inflammation and damage of various body tissues. Lupus can affect many parts of the body, including the joints, skin, kidneys, heart, lungs, blood vessels, and brain. Although people with the disease may have many different symptoms, some of the most common ones include extreme fatigue, painful or swollen joints (arthritis), unexplained fever, skin rashes, and kidney problems. Lupus is also known as a rheumatic disease. The rheumatic diseases are a group of disorders that cause aches, pain, and stiffness in the joints, muscles, and bones.

Capping, poly A, splicing m. RNA processing sum •

Splicing of pre-m. RNA movie Plo. A spliceosome

The network of RNA interactions in the spliceosome

Treatment of thalassemia major

antisense

Human genome 2. 91 billion base pairs 21, 000 genes 1. 5% exons (127 nucleotides) 24% introns (~3, 000 nucleotides) 75% intergenic (no genes) Average size of a gene is 27, 894 bases Contains an average of 8. 8 exons Titin contains 234 exons.

Gene number C. elegans ~19, 000 Homo Sapiens ~21, 000 Drosophila melanogaster ~13, 600 Mouse ~21, 000 Arabidopsis thaliana ~25, 500 Rice (Oryza sativa) ~50, 000

Compared to worm and fly, human has shorter exons and longer introns on the extremes of the distribution 150 nt – drosophila 125 nt – Ciona intes. 119 nt - human

5000 genes 234 introns Multi-introns genes 7. 8 introns per gene

Alternative splicing regulate pro or anti apoptotic pathways. pro-apoptotic anti-apoptotic

RNA processing

m. RNA transport from the nucleus to the cytoplasm m. RNA גרעין תעלה Nucleopore ממברנת הגרעין ציטופלזמה

Protein import to the nucleus m. RNA movment • m. RNA mov חלבונים המיועדים לגרעין צריכים להכיל רצף חומצות אמינו הנקרא . Nuclear localization signal (NLS)

גרעינון Nucleoli or Nucleolus

r. RNA processing

Pre-r. RNA processing

t. RNA processing RNase P CCA adding enzyme

Transport from the nucleus to the cytoplasm. 1 Precursor ribosomal RNA processing (pre-r. RNA). 2 t. RNA processing. 3

Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome

How are short exons recognized within vast intron oceans? Schwartz et al. , Nature SMB, 2009

Nucleosomes mark exon-intron structure

What drives nucleosomes to exons? Nucleosome positioning is dependent on nucleotide composition Eran Segal from the WIC

Nucleosomes mark exon-intron structure

Ch. IP-seq in a nutshell

Nucleosomes mark exon-intron structure

Exon length and DNA length wrapped around nucleosomes are conserved through evolution